Canonical Allele Identifier: CA390152874

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729202-A-G
• MyVariant Identifiers: chr14:g.68195919A>G (hg19) ; chr14:g.67729202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729202A>G , CM000676.2:g.67729202A>G	GRCh38
NC_000014.8:g.68195919A>G , CM000676.1:g.68195919A>G	GRCh37
NC_000014.7:g.67265672A>G	NCBI36
NG_008321.1:g.32317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.670A>G (RDH12) MANE Select	ENSP00000449079.1:p.Thr224Ala
ENST00000267502.3:c.670A>G (RDH12)	ENSP00000267502.3:p.Thr224Ala
ENST00000394455.6:n.3288+9T>C (ZFYVE26)
ENST00000551171.5:c.670A>G (RDH12)	ENSP00000449079.1:p.Thr224Ala
ENST00000552873.1:n.39A>G (RDH12)
NM_152443.2:c.670A>G (RDH12)	NP_689656.2:p.Thr224Ala
XM_017020925.2:c.1313-5993A>G (GPHN)	XP_016876414.1:n.1313-5993A>G
XM_017021125.1:c.*540T>C (ZFYVE26)	XP_016876614.1:n.*540T>C
NM_152443.3:c.670A>G (RDH12) MANE Select	NP_689656.2:p.Thr224Ala